{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:04:50Z","timestamp":1790748290901,"version":"4.1.0"},"reference-count":32,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Okur-Chung neurodevelopmental syndrome (OCNDS) is an ultra-rare disorder caused by variants in the CSNK2A1 gene. CSNK2A1 encodes for the alpha subunit of casein kinase 2 (CK2), a serine\/threonine kinase critical in neural development. CK2 is implicated in many human pathologies, including viral infections, cancer, inflammation, cardiovascular, neurodegenerative, and psychiatric diseases. However, the mechanism of action for the CSNK2A1 variants observed in OCNDS is not fully understood, although studies suggest a loss of function or altered substrate specificity. There are no approved treatments for OCNDS, and current treatments focus on symptom management. The CSNK2A1 Foundation was established in 2018 and aims to find a cure for OCNDS and provide support to affected individuals. OCNDS presents with symptoms at varying severity, including developmental delay\/intellectual disabilities, autism, disrupted sleep, speech delays\/inability to speak, short stature, and, in ~25% of cases, epilepsy. The foundation has developed a research toolbox that is readily available to researchers worldwide and has awarded ~$1\u2009million in grant funding. These efforts have provided valuable insights into CK2 biology and the natural history of OCNDS. However, additional efforts are needed to fully characterize the disease mechanism and investigate potential treatment interventions. Continued investigation into CK2 and its role in neural development holds promise for a better understanding of OCNDS and related disorders in the future. To accelerate research, we have developed a research roadmap highlighting key focus areas of landscape analysis\/toolbox expansion, biomarker development, and therapeutic testing through a series of steps that are nonlinear; we expect these efforts to guide decision-making for therapeutic exploration whether that be drug repurposing, gene therapy, novel drug discovery, or a combination. In this perspective article, we describe OCNDS and the CSNK2A1 gene, highlight gaps in OCNDS research, discuss the research roadmap, and offer the founder\u2019s perspective on our growth and future opportunities.<\/jats:p>","DOI":"10.1177\/26330040241249763","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T08:25:40Z","timestamp":1721895940000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome"],"prefix":"10.1177","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6114-883X","authenticated-orcid":false,"given":"Gabrielle V.","family":"Rushing","sequence":"first","affiliation":[{"name":"CSNK2A1 Foundation, 1929 Van Ness Avenue, San Francisco, CA 94109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Sills","sequence":"additional","affiliation":[{"name":"CSNK2A1 Foundation, San Francisco, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"bibr1-26330040241249763","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1661-y"},{"key":"bibr2-26330040241249763","doi-asserted-by":"publisher","DOI":"10.3390\/ph10010007"},{"key":"bibr3-26330040241249763","unstructured":"Okur-Chung Neurodevelopmental Syndrome \u2013 GeneReviews\n                      \u00ae\n                      \u2013 NCBI Bookshelf, 2022, https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK581083\/ (accessed 25 October 2023)."},{"key":"bibr4-26330040241249763","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14408"},{"key":"bibr5-26330040241249763","doi-asserted-by":"publisher","DOI":"10.1186\/s41983-019-0103-x"},{"key":"bibr6-26330040241249763","unstructured":"SFARI Gene \u2013 Welcome. 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